Protein Information

General Information
MoonProt ID259
First appeared in release1.0
Name(s)Cystic fibrosis transmembrane conductance regulator CFTR ATP-binding cassette sub-family C member 7 Channel conductance-controlling ATPase cAMP-dependent chloride channel Gene Name:CFTR
UniProt IDP13569 (CFTR_HUMAN), Reviewed
GO termsGO:0006200 ATP catabolic process GO:0006695 cholesterol biosynthetic process GO:0006810 transport GO:0006811 ion transport GO:0006821 chloride transport GO:0006833 water transport GO:0007585 respiratory gaseous exchange GO:0015701 bicarbonate transport GO:0015705 iodide transport GO:0030301 cholesterol transport GO:0030321 transepithelial chloride transport GO:0030324 lung development GO:0032870 cellular response to hormone stimulus GO:0034097 response to cytokine GO:0042311 vasodilation GO:0042493 response to drug GO:0043434 response to peptide hormone GO:0043627 response to estrogen GO:0045909 positive regulation of vasodilation GO:0048240 sperm capacitation GO:0051454 intracellular pH elevation GO:0055085 transmembrane transport GO:0060081 membrane hyperpolarization GO:0071320 cellular response to cAMP GO:1902476 chloride transmembrane transport GO:1902943 positive regulation of voltage-gated chloride channel activity GO:0000166 nucleotide binding GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity GO:0005254 chloride channel activity GO:0005260 channel-conductance-controlling ATPase activity GO:0005515 protein binding GO:0005524 ATP binding GO:0015106 bicarbonate transmembrane transporter activity GO:0015108 chloride transmembrane transporter activity GO:0016787 hydrolase activity GO:0016887 ATPase activity GO:0017111 nucleoside-triphosphatase activity GO:0019869 chloride channel inhibitor activity GO:0019899 enzyme binding GO:0030165 PDZ domain binding GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0005737 cytoplasm GO:0005768 endosome GO:0005769 early endosome GO:0005886 plasma membrane GO:0005902 microvillus GO:0009986 cell surface GO:0016020 membrane GO:0016021 integral component of membrane GO:0016323 basolateral plasma membrane GO:0016324 apical plasma membrane GO:0030659 cytoplasmic vesicle membrane GO:0031901 early endosome membrane GO:0034707 chloride channel complex GO:0043234 protein complex colocalizes_with GO:0031205 endoplasmic reticulum Sec complex GO:0099106 ion channel regulator activity
Organisms for which functions have been demonstratedHomo sapiens
Sequence length1480
FASTA sequence>sp|P13569|CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator OS=Homo sapiens GN=CFTR PE=1 SV=3 MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL
Structure Information
PDB ID1XMI 2BBT 2BBS, 2BBO 1XMJ
Quaternary structure
Function 1
Function descriptionchloride transporter ATP + H2O => ADP + phosphate contains nucleotide binding domains that bind and hydrolyze ATP
References for functionZielenski, Julian, et al. "Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene." Genomics 10.1 (1991): 214-228.
E.C. number3.6.3.49
Location of functional site(s)binding site: 401, 434, 493, 1219; nucleotide binding: 458-465, 1244-1251
Cellular location of functionplasma membrane, transmembrane protein
Commentsthe gene that is mutated in patients with cystic fibrosis
Function 2
Function descriptionregulator of other ion channels
References for functionStutts MJ, Canessa CM, Olsen JC, Hamrick M, Cohn JA, Rossier BC, Boucher RC. CFTR as a cAMP-dependent regulator of sodium channels. Science. 1995 Aug 11;269(5225):847-50. PMID: 7543698
E.C. numberN/A
Location of functional site(s)
Cellular location of functionplasma membrane, transmembrane protein
Comments